光谱核型分析技术在标记染色体诊断中的应用

Application of spectral karyotyping in diagnosis and prenatal diagnosis of the marker chromosome

目的 探讨光谱核型分析（SKY）技术在标记染色体诊断中的应用价值。方法 选取临床工作中未能确诊的6个标记染色体病例（包括外周血标本4例和羊水、脐血产前诊断标本各1例），其中4例是为诊断目的，2例是为产前诊断目的。按SKY技术操作常规进行制片杂交，通过相应的计算机软件分析结果。应用荧光原位杂交（FISH）对SKY技术分析结果行进一步鉴定；并应用C显带技术对染色体的异染色质成分进行辅助诊断。结果 6个标记染色体病例均成功地进行了SKY技术分析，并明确了标记染色体的来源；除病例4外，其他5个病例的FISH鉴定结果均与SKY技术分析结果相符。在明确诊断的2例产前诊断病例中，1例属家族遗传性的标记染色体病例，因而继续妊娠，至足月顺产一女婴，产后随访至今，女婴生长发育未见异常；而另1例属新发生的标记染色体病例，因而于孕25周时终止妊娠。结论 SKY技术可以快速、直观和准确地诊断不明来源的标记染色体。

Objective To determine the value of spectral karyotyping（SKY） in identification of the marker chromosome. Methods Selected six cases that could not be identified in clinic were studied, using samples of peripheral blood from four cases, and samples of amonic fluid and fetal cord blood for prenatal diagnosis in two cases were investigated. All cases were analyzed with the routine SKY method, and the results with the SKY View software. The SKY results were identified by using fluorescence in situ hybridization （FISH）. And C-banding technique was used to help diagnose the heterochromatin. Results SKY was successfully performed on all of 6 cases. The origin of all marker chromosomes was identified by SKY. Except case No. 4, the others were confirmed by FISH. It helped determine the pregnancy outcome in two cases of prenatal diagnosis： one case of genetic marker chromosome continued the pregnancy, and another case of de novo marker chromosome was terminated of the pregnancy. Conclusion SKY may be a valuable tool to diagnose the marker chromosome with rapidness, direct-viewing and sensitiveness. It can be used to assess the prognosis and the pregnancy outcome.